4.7 Article

Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Genetics & Heredity

Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both?

Alessandra Pennisi et al.

Summary: This study investigates the relationship between PNPT1 gene and mitochondrial diseases, and describes the neuroimaging findings in 6 patients with PNPT1. The study identifies novel lesions and provides important clues for further understanding of this disease.

JOURNAL OF MEDICAL GENETICS (2022)

Review Immunology

The type I interferonopathies: 10 years on

Yanick J. Crow et al.

Summary: The term 'type I interferonopathy' was coined 10 years ago to describe rare genetic diseases caused by aberrant upregulation of type I interferon signaling. Viral nucleic acid detection is crucial for effective immune response, but failure in self versus non-self discrimination can lead to Mendelian inborn errors of immunity characterized by upregulation of type I interferon signaling.

NATURE REVIEWS IMMUNOLOGY (2022)

Article Clinical Neurology

PNPT1 mutations may cause Aicardi-Goutie` res-Syndrome

Daniel Bamborschke et al.

Summary: This case report presents a patient with early-onset encephalopathy, severe neurodevelopmental regression, epilepsy, and other symptoms, with a novel likely-pathogenic homozygous variant in the PNPT1 gene identified through whole-exome sequencing. The study demonstrates that this mutation leads to chronic type I interferon-mediated autoinflammation.

BRAIN & DEVELOPMENT (2021)

Review Clinical Neurology

Treatments in Aicardi-Goutieres syndrome

Yanick J. Crow et al.

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2020)

Letter Medicine, General & Internal

Janus Kinase Inhibition in the Aicardi-Goutieres Syndrome

Adeline Vanderver et al.

NEW ENGLAND JOURNAL OF MEDICINE (2020)

Letter Medicine, General & Internal

JAK Inhibition in the Aicardi-Goutieres Syndrome

Benedicte Neven et al.

NEW ENGLAND JOURNAL OF MEDICINE (2020)

Article Genetics & Heredity

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

Andrea Cortese et al.

NATURE GENETICS (2019)

Article Biochemical Research Methods

ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions

Egor Dolzhenko et al.

BIOINFORMATICS (2019)

Article Medicine, General & Internal

Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants

Rocio Rius et al.

JOURNAL OF CLINICAL MEDICINE (2019)

Article Multidisciplinary Sciences

Generation and characterisation of a parkin-Pacrg knockout mouse line and a Pacrg knockout mouse line

Sarah E. M. Stephenson et al.

SCIENTIFIC REPORTS (2018)

Article Multidisciplinary Sciences

Mitochondrial double-stranded RNA triggers antiviral signalling in humans

Ashish Dhir et al.

NATURE (2018)

Article Genetics & Heredity

Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data

Rick M. Tankard et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2018)

Article Biochemistry & Molecular Biology

Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease

Ahmad Alodaib et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2017)

Article Biochemistry & Molecular Biology

Defective mitochondrial RNA processing due to PNPT1 variants causes Leigh syndrome

Sanna Matilainen et al.

HUMAN MOLECULAR GENETICS (2017)

Article Biochemical Research Methods

XIBD: software for inferring pairwise identity by descent on the X chromosome

Lyndal Henden et al.

BIOINFORMATICS (2016)

Article Genetics & Heredity

Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects

A. M. Slavotinek et al.

CLINICAL GENETICS (2015)

Article Medicine, Research & Experimental

Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations

Nadia Jeremiah et al.

JOURNAL OF CLINICAL INVESTIGATION (2014)

Article Genetics & Heredity

A general framework for estimating the relative pathogenicity of human genetic variants

Martin Kircher et al.

NATURE GENETICS (2014)

Article Biochemical Research Methods

STAR: ultrafast universal RNA-seq aligner

Alexander Dobin et al.

BIOINFORMATICS (2013)

Article Genetics & Heredity

A Mutation in PNPT1, Encoding Mitochondrial-RNA-Import Protein PNPase, Causes Hereditary Hearing Loss

Simon von Ameln et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2012)

Article Multidisciplinary Sciences

An integrated map of genetic variation from 1,092 human genomes

David M. Altshuler et al.

NATURE (2012)

Article Genetics & Heredity

Defective Mitochondrial mRNA Maturation Is Associated with Spastic Ataxia

Andrew H. Crosby et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2010)

Article Biochemical Research Methods

Generating linkage mapping files from Affymetrix SNP chip data

M. Bahlo et al.

BIOINFORMATICS (2009)

Article Biochemical Research Methods

The Sequence Alignment/Map format and SAMtools

Heng Li et al.

BIOINFORMATICS (2009)

Article Clinical Neurology

Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p

G Stevanin et al.

ANNALS OF NEUROLOGY (2004)

Article Genetics & Heredity

Estimation of the inbreeding coefficient through use of genomic data

AL Leutenegger et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2003)